Pregnancy complicated by preeclampsia (PE) and intrauterine growth restriction (IUGR) promotes endothelial cell (EC) dysfunction. Our in vitro study aimed to evaluate the endothelial cell morphology after acute and chronic exposition to medium supplemented with serum taken from healthy pregnant women and women with IUGR and IUGR with PE. In the same condition, ECs viability, proliferation, reactive oxygen species (ROS) production, and serum concentration of vascular endothelial growth factor (VEGF) were also measured. Pregnant women with IUGR and IUGR with PE-delivered babies with reduced body mass and were characterized in elevated blood pressure, urine protein loss, and reduced level of VEGF. The 24 hours of exposition did not exert any morphological changes in ECs, except the reduction in cell viability, but prolonged exposition resulted in significant morphological changes concerning mostly the swelling of mitochondria with accompanying ROS production, cell autophagy, reduced cell viability, and proliferation only in complicated pregnancies. In conclusion, the sera taken from women with IUGR and IUGR with PE show a detrimental effect on ECs, reducing their viability, proliferation, and generating oxidative stress due to dysfunctional mitochondria. This multidirectional effect might have an adverse impact on the cardiovascular system in women with IUGR and PE.

Introduction: Metabolic syndrome (MetS), characterized by visceral obesity, glucose abnormalities, hypertension and dyslipidemia, poses a significant risk of diabetes and cardiovascular disease. Turner syndrome (TS), resulting from X chromosome abnormalities, carries health complications. Despite growing evidence of an increased risk of MetS in women with TS, its prevalence and risk factors remain under investigation. These considerations are further complicated by the varying timing and dosages of treatment with growth hormone and sex hormones. Methods: We conducted a cross-sectional study comparing 44 individuals with TS with 52 age-matched control subjects. Growth hormone treatment in the study group was administered for varying lengths of time, depending on clinical response. We collected anthropometric, metabolic, endocrine and body composition data. Statistical analyses included logistic regression. Results: Baseline characteristics, including age, BMI and height, were comparable between the TS and control groups. Hormonally, individuals with TS showed lower levels of testosterone, DHEA-S, and cortisol, as well as elevated FSH. Lipid profiles indicated an atherogenic profile, and the body composition analysis showed increased visceral adipose tissue in those with TS. Other metabolic abnormalities were common in individuals with TS too, including hypertension and impaired fasting glucose levels. The risk of MetS components was assessed in subgroups according to karyotypes: monosomy 45X0 vs. other mosaic karyotypes. Logistic regression analysis showed a significant association between increased visceral adipose tissue in subjects with TS. Those with metabolic complications tended to have less muscle strength compared to those without these complications in both the study and control groups. Conclusions: This study highlights the unique metabolic and cardiovascular risk profile of individuals with TS, characterized by atherogenic lipids, higher levels of visceral adipose tissue and increased metabolic abnormalities. These findings underscore the importance of monitoring metabolic health in individuals with TS, regardless of age, BMI or karyotype, and suggest the potential benefits of lifestyle modification, building more muscle strength, and weight control strategies. Further research is needed to better understand and address the metabolic challenges faced by women with TS.

W pracy przeanalizowano przypadek kobiety w ciąży bliźniaczej powikłanej stanem przedrzucawkowym i zaburzeniami oddychania podczas snu. Pacjentka została przyjęta do szpitala z powodu nadciśnienia tętniczego, białkomoczu oraz narastających obrzęków. Wyniki badań laboratoryjnych ujawniły białkomocz oraz zmniejszenie stężenia białka całkowitego w surowicy krwi. Rozpoznano łagodną postać stanu przedrzucawkowego. Z uwagi na zaobserwowaną nasiloną senność dzienną, głośne chrapanie i przerwy w oddychaniu podczas snu wykonano u pacjentki badanie polisomnograficzne, podczas którego obserwowano liczne epizody bezdechów obturacyjnych i spłyconego oddychania podczas snu. Wartość wskaźnika AHI (apnea-hypopnea index) wynosiła 82.1 z licznymi epizodami desaturacji osiągającymi najniższą wartość 82%. Rozpoznano ciężką postać obturacyjnego bezdechu sennego i włączono leczenie za pomocą protezy powietrznej (CPAP). Zastosowanie CPAP pozwoliło na zmniejszenie wskaźnika AHI do 1.2 oraz lepszą kontrolę ciśnienia tętniczego. Między 33. a 35. tygodniem ciąży pacjentka stosowała CPAP. W 35. tygodniu ciąży z uwagi na wystąpienie objawów zagrożenia życia pierwszego bliźniaka w zapisie kardiotokograficznym ukończono ciążę cięciem cesarskim. Urodziły się dwa noworodki płci męskiej w stanie dobrym. W okresie połogu pacjentka zaprzestała stosowania CPAP. Obserwowano wzrost wskaźnika AHI do 45.3 oraz wzrost wartości ciśnienia tętniczego do najwyższej wartości 180/100 mm Hg. Pacjentka w stanie ogólnym dobrym w 7. dobie połogu została zwolniona do domu z zaleceniami dalszej diagnostyki i leczenia w poradni zaburzeń snu. Podsumowując, należy stwierdzić że, zaburzenia snu wywierają niekorzystny wpływ na zdrowie matki i płodu, na nastrój i jakość życia ciężarnej. Udowodniono, że istnieje wiele zależności między snem a zdrowiem. Zaburzenia snu wraz z zaburzeniami oddychania podczas snu przyczyniają się do rozwoju wielu różnych chorób ogólnych bądź też pogarszają ich przebieg. A choroby te z drugiej strony negatywnie wpływają na jakość snu. Podstawowe znaczenie ma leczenie schorzenia podstawowego, lecz towarzyszące mu zaburzenia snu także wymagają terapii.

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial features, growth limitations, and limb anomalies. Its broad clinical spectrum presents significant challenges in pediatric diagnosis and management. Due to cohesin complex mutations, the disorder’s variable presentation requires extensive research to refine care and improve outcomes. This article provides a case series review of pediatric CdLS patients alongside a comprehensive literature review, exploring clinical variability and the relationship between genotypic changes and phenotypic outcomes. It also discusses the evolution of diagnostic and therapeutic techniques, emphasizing innovations in genetic testing, including detecting mosaicism and novel genetic variations. The aim is to synthesize case studies with current research to advance our understanding of CdLS and the effectiveness of management strategies in pediatric healthcare. This work highlights the need for an integrated, evidence-based approach to diagnosis and treatment. It aims to fill existing research gaps and advocate for holistic care protocols and tailored treatment plans for CdLS patients, ultimately improving their quality of life.

Objectives: The aim of the study was to compare the perinatal outcome between the normal weight, overweight and obese pregnant women who delivered in the third-level center of reference. Moreover, the objective was to analyze the usefulness of predelivery body mass index (BMI) in prediction of preterm delivery, prolonged second stage of labor, instrumental vaginal delivery, cesarean section, fetal macrosomia, dystocia and newborn acidosis. Material and methods: The retrospective study included 2104 patients, divided into three groups, with BMI between 18.5 and 24.9; 25.0 and 29.9; higher than or equal 30.0 kg/m², respectively. The data was assessed from the medical history. Results: The predelivery obesity increases the risk of cesarean section (aOR 1.63), macrosomia (aOR 8.89) and dystocia (aOR 3.40) in comparison to normal weight women. Moreover, the obese females had three times greater risk of having a macrosomic child (aOR 3.57) and 1.5 times greater risk of cesarean section (aOR 1.52) than overweight group. The role of predelivery BMI in the prediction of cesarean delivery (AUC 0.550; sensitivity 0.39; specificity 0.71, p < 0.001, cut-off value 28.7 kg/m²), macrosomia (AUC 0.714; sensitivity 0.66; specificity 0.70; p < 0.001, cut-off value 29.0 kg/m²) and dystocia (AUC 0.658; sensitivity 0.77; specificity 0.53, p < 0.001, cut-off value 27.0 kg/m²) was significant. Conclusions: The predelivery obesity increases the risk of cesarean section, macrosomia and shoulder dystocia and is a useful parameter in the prediction of perinatal outcomes. The establishing cut-off value for predelivery BMI was the lowest in prediction of shoulder dystocia. Objectives: The aim of the study was to compare the perinatal outcome between the normal weight, overweight and obese pregnant women who delivered in the third-level center of reference. Moreover, the objective was to analyze the usefulness of predelivery body mass index (BMI) in prediction of preterm delivery, prolonged second stage of labor, instrumental vaginal delivery, cesarean section, fetal macrosomia, dystocia and newborn acidosis. Material and methods: The retrospective study included 2104 patients, divided into three groups, with BMI between 18.5 and 24.9; 25.0 and 29.9; higher than or equal 30.0 kg/m², respectively. The data was assessed from the medical history. Results: The predelivery obesity increases the risk of cesarean section (aOR 1.63), macrosomia (aOR 8.89) and dystocia (aOR 3.40) in comparison to normal weight women. Moreover, the obese females had three times greater risk of having a macrosomic child (aOR 3.57) and 1.5 times greater risk of cesarean section (aOR 1.52) than overweight group. The role of predelivery BMI in the prediction of cesarean delivery (AUC 0.550; sensitivity 0.39; specificity 0.71, p < 0.001, cut-off value 28.7 kg/m²), macrosomia (AUC 0.714; sensitivity 0.66; specificity 0.70; p < 0.001, cut-off value 29.0 kg/m²) and dystocia (AUC 0.658; sensitivity 0.77; specificity 0.53, p < 0.001, cut-off value 27.0 kg/m²) was significant. Conclusions: The predelivery obesity increases the risk of cesarean section, macrosomia and shoulder dystocia and is a useful parameter in the prediction of perinatal outcomes. The establishing cut-off value for predelivery BMI was the lowest in prediction of shoulder dystocia.